Welcome, fellow orphans!

Essential thrombocytosis/thrombocythemia is an "orphan disease," that is, a disease that is a) largely ignored by medical research because b) very few people have it, which means c) there's no money to be made treating it.

A National Institutes of Health article from the British Journal of Pharmacology explains the landscape for orphan diseases and treatments and why ET's designation as an orphan disease matters.

In the U.S. you have an orphan disease if there are fewer than 200,000 people diagnosed with it. The World Health Organization has suggested that an orphan disease is one that fewer than 6.5 to 10 people per 10,000 have, but so far this ratio has not been adopted globally.

Most orphan diseases are genetic diseases, and the National Organization of Rare Diseases lists 1,200 separate ailments. NIH lists over 6,000.

Orphan drugs are used to treat orphan diseases. That doesn't mean those drugs are rare. For instance, I and many other ET patients take a low-dose aspirin every day to reduce possible increased clot risks, and aspirin, in this case, is an orphan drug.

In some cases, researchers stumble upon orphan drugs in the course of looking for cures and treatments for other diseases. Hydroxyurea (trade name Hydrea), which seems to be the go-to drug for ET if platelets go much above 800, was originally used to treat leukemia. Doctors noticed that hydroxyurea reduced platelet counts, so it was eventually approved as a treatment for ET.

Development of new drugs specifically aimed at orphan diseases often runs afoul of the profit motive: Why bother to research new meds to treat a disease without much of a market? In some cases, according to the NIH article, just doing a clinical trial on an existing drug that might help manage or cure an orphan disease is not considered cost-effective.

In an effort to direct more research to orphan diseases, the U.S. passed the Orphan Drug Act (ODA) in 1983. The act provides, among other things, tax credits to companies looking to develop treatments for orphan diseases as well as "extended market exclusivity." That means that a company that develops an orphan drug gets to hang onto it longer before it goes generic.

So is the ODA working?

Sorta.

Between 1983 and 2002, 231 orphan drugs/treatments were approved In the U.S. Compare that to Europe, which does not provide the same incentives, and where only 18 were approved. Clearly the ODA spurred more research.

However, those new orphan drugs are likely to be extremely expensive. For instance, a new drug, Jakafi, approved for treatment of some MPNs, costs $7,000 per month. Manufacturer Incyte claims to have a program to help people with the cost of the drug. (GoodRx.com shows that hydroxyurea runs between $18 and $40 per month, depending on your pharmacy.)

Complicating the cost picture for orphan drugs are health insurance company formularies, which list the drugs your insurance company will actually pay for. My HMO, for example, will not pay for Jakafi. It will pay for hydroxyurea, but at a much higher co-pay than some other drugs.

Bottom line: Ask your hematologist what drugs he might prescribe for you down the road and call your insurance company to find out whether they're covered. I also recommend checking prices on GoodRx.com.

Be well!

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